Genotype and phenotypic analysis of AB type GM2 gangliosidosis:1 case report and literature review
10.11855/j.issn.0577-7402.1324.2023.1228
- VernacularTitle:AB型GM2神经节苷脂沉积症基因型、表型分析:1例报道并文献复习
- Author:
Mei-Jiao TAO
1
;
Ping HUANG
;
Guang YANG
Author Information
1. 广西医学科学院/广西壮族自治区人民医院儿科,广西南宁 530021
- Keywords:
ganglioside deposition;
gene,GM2A;
GM2 activating protein
- From:
Medical Journal of Chinese People's Liberation Army
2024;49(4):432-438
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the genotypic and phenotypic characteristics of AB type GM2 gangliosidosis(GM2-GLS)with onset during childhood.Methods The report analyzed the clinical data and gene detection results of a 4-year-old child with AB type GM2-GLS diagnosed by Trio whole exome detection in March 2022 admitted to the Department of Pediatrics of Guangxi Zhuang Autonomous Region People's Hospital.The clinical data and genetic testing results are analyzed.A literature review was also conducted on relevant studies published between 1991 and 2022 in the PubMed database.Results The results of Trio whole exome sequencing and Sanger verification showed that the GM2A gene carried two compound heterozygous mutations:c.158_159delTG and c.496G>A,which caused p.L53Rfs*3 frameshift mutation and p.G166R missense mutation,respectively.A total of 20 cases were reported in 22 articles.A total of 11 mutation types of GM2A gene were included in the ClinVar Database.Conclusions AB type GM2-GLS is a rare autosomal recessive lysosomal storage disease,and its gene test is helpful for definite diagnosis.
